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https://www.readbyqxmd.com/read/28432847/genotype-phenotype-correlation-in-paediatric-pheochromocytoma-and-paraganglioma-a-single-centre-experience-from-india
#1
Kranti Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Reshma Pandit, Manjunath Goroshi, Vyankatesh Shivane, Anurag Lila, Tushar Bandgar, Nalini S Shah
BACKGROUND: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort. METHODS: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1)...
April 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28425756/cns-hemangioblastomatosis-in-a-patient-without-von-hippel-lindau-disease
#2
Arie Franco, Peter Pytel, Rimas V Lukas, Rupa Chennamaneni, John M Collins
We report on a case of disseminated CNS hemangioblastoma, also referred to as hemangioblastomatosis, involving the supratentorial compartment and the entire spine. The patient presented with new onset headache, gait difficulties and memory deficits many years following resection of a hemangioblastoma from the cerebellum. The patient's family history was negative for von Hippel-Lindau (VHL) disease, and his personal history was negative for any additional VHL-defining lesions. Imaging revealed extensive dural caking and nodularity both supratentorially and in the spine, along with scattered parenchymal tumors showing a more typical appearance for hemangioblastoma...
April 2017: CNS Oncology
https://www.readbyqxmd.com/read/28425505/novel-interactions-of-the-von-hippel-lindau-pvhl-tumor-suppressor-with-the-cdkn1-family-of-cell-cycle-inhibitors
#3
Giovanni Minervini, Raffaele Lopreiato, Raissa Bortolotto, Antonella Falconieri, Geppo Sartori, Silvio C E Tosatto
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor predisposes patients to develop different highly vascularized cancers. pVHL targets the hypoxia-inducible transcription factor (HIF-1α) for degradation, modulating the activation of various genes involved in hypoxia response. Hypoxia plays a relevant role in regulating cell cycle progression, inducing growth arrest in cells exposed to prolonged oxygen deprivation. However, the exact molecular details driving this transition are far from understood...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28413448/genetic-and-epigenetic-characterization-of-the-tumors-in-a-patient-with-a-tongue-primary-tumor-a-recurrence-and-a-pharyngoesophageal-second-primary-tumor
#4
Ilda P Ribeiro, Francisco Marques, Leonor Barroso, Jorge Miguéis, Francisco Caramelo, André Santos, Maria J Julião, Joana B Melo, Isabel M Carreira
BACKGROUND: The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, and the overall survival is lower when compared with patients with a single or first tumor. Identifying biomarkers that predict the risk of relapse and the response to treatment is an emerging clinical issue. CASE PRESENTATION: A Caucasian 49-years-old man was treated with chemotherapy followed by chemoradiotherapy for a primary left side tongue tumor, achieving a complete response...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28413127/evolution-of-circulating-tumor-dna-profile-from-first-line-to-subsequent-therapy-in-metastatic-renal-cell-carcinoma
#5
Sumanta K Pal, Guru Sonpavde, Neeraj Agarwal, Nicholas J Vogelzang, Sandy Srinivas, Naomi B Haas, Sabina Signoretti, Bradley A McGregor, Jeremy Jones, Richard B Lanman, Kimberly C Banks, Toni K Choueiri
BACKGROUND: Treatment of metastatic renal cell carcinoma (mRCC) typically entails mechanistically distinct agents across the first- and second-line setting. Activity of these agents may be predicated on selective pressure that modulates RCC biology. Circulating tumor DNA (ctDNA) is a platform to noninvasively ascertain temporal changes in genomic profile. OBJECTIVE: To assess the ctDNA profile in a large cohort of mRCC patients, and to assess changes across patients receiving first-line and later lines of therapy...
April 13, 2017: European Urology
https://www.readbyqxmd.com/read/28408295/genomic-alterations-as-predictors-of-survival-among-patients-within-a-combined-cohort-with-clear-cell-renal-cell-carcinoma-undergoing-cytoreductive-nephrectomy
#6
Daniel M Tennenbaum, Brandon J Manley, Emily Zabor, Maria F Becerra, Maria I Carlo, Jozefina Casuscelli, Almedina Redzematovic, Nabeela Khan, Maria E Arcila, Martin H Voss, Darren R Feldman, Robert J Motzer, Nicole E Benfante, Jonathan A Coleman, Paul Russo, James J Hsieh, Abraham Ari Hakimi
PURPOSE: To establish prognostic genomic biomarkers for patients with metastatic clear cell renal cell carcinoma (ccRCC). MATERIALS AND METHODS: We identified 60 patients who presented with metastatic ccRCC at our institution between 2001 and 2015 and had genomic sequencing on their primary tumor. We pooled these patients with 107 other patients with the same inclusion criteria from three well-known public databases. Five commonly mutated genes were chosen for analysis: VHL, PBRM1, BAP1, SETD2, and KDM5C...
April 10, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28408240/intratumor-heterogeneity-in-primary-kidney-cancer-revealed-by-metabolic-profiling-of-multiple-spatially-separated-samples-within-tumors
#7
Takatsugu Okegawa, Megumi Morimoto, Satoru Nishizawa, Satoshi Kitazawa, Kohei Honda, Hideo Araki, Toshiya Tamura, Ayumi Ando, Yoshinori Satomi, Kikuo Nutahara, Takahito Hara
Metabolic alteration constitutes a hallmark of cancer. Glycolysis and antioxidant pathways in kidney cancer are elevated, with frequent mutation of the VHL gene. Intratumor genetic heterogeneity has been recently demonstrated in kidney cancer. However, intratumor metabolic heterogeneity has not been investigated. Here, we used global metabolomics analysis and tissue slice tracer studies to demonstrate that different portions of a human primary kidney tumor possess different metabolic characteristics and drug sensitivity...
April 6, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28400504/cardiopulmonary-phenotype-associated-with-human-phd2-mutation
#8
Nick P Talbot, Thomas G Smith, George M Balanos, Keith L Dorrington, Patrick H Maxwell, Peter A Robbins
Oxygen-dependent regulation of the erythropoietin gene is mediated by the hypoxia-inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen-dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the von Hippel-Lindau (VHL) ubiquitin E3 ligase and subsequent proteosomal degradation. When oxygen is scarce, the PHD enzymes are inactivated, leading to HIF accumulation and upregulation not only of erythropoietin expression, but also the expression of hundreds of other genes, including those coordinating cardiovascular and ventilatory adaptation to hypoxia...
April 2017: Physiological Reports
https://www.readbyqxmd.com/read/28400229/clinical-features-and-surgical-outcomes-in-patients-with-cerebellopontine-angle-hemangioblastomas-a-retrospective-series-of-23-cases
#9
Jian Cheng, Wenke Liu, Si Zhang, Ding Lei, Xuhui Hui
OBJECTIVE: Hemangioblastomas in the cerebellopontine angle (CPA) are uncommon and have rarely been reported. They may be easily misdiagnosed because of the atypical location, clinical and imaging features. The present study aimed to characterize clinical and radiological features, treatment strategies and outcomes in these rare lesions and to investigate various factors that may affect postoperative outcomes. METHODS: The medical records of patients with CPA hemangioblastomas who underwent surgery from 2003 to 2016 at the West China Hospital were reviewed retrospectively and statistically analyzed...
April 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28394947/hypoxia-inducible-factor-2%C3%AE-stabilizes-the-von-hippel-lindau-vhl-disease-suppressor-myb-related-protein-2
#10
Fumihiko Okumura, Akiko Joo-Okumura, Kunio Nakatsukasa, Takumi Kamura
Ubiquitin ligase von Hippel-Lindau tumor suppressor (pVHL) negatively regulates protein levels of hypoxia-inducible factor-α (HIF-α). Loss of pVHL causes HIF-α accumulation, which contributes to the pathogenesis of von Hippel-Lindau (VHL) disease. In contrast, v-Myb avian myeloblastosis viral oncogene homolog-like 2 (MYBL2; B-Myb), a transcription factor, prevents VHL pathogenesis by regulating gene expression of HIF-independent pathways. Both HIF-α and B-Myb are targets of pVHL-mediated polyubiquitination and proteasomal degradation...
2017: PloS One
https://www.readbyqxmd.com/read/28388566/genotype-phenotype-correlations-in-chinese-von-hippel-lindau-disease-patients
#11
Shuanghe Peng, Matthew J Shepard, Jiangyi Wang, Teng Li, Xianghui Ning, Lin Cai, Zhengping Zhuang, Kan Gong
von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlations at mutation type level, mutation region level, and mutation codon level were analyzed by Kaplan-Meier curves and Cox regression models...
March 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28387881/review-article-intermediate-alleles-of-huntington-s-disease-htt-gene-in-different-populations-worldwide-a-systematic-review
#12
T A Apolinário, C L A Paiva, L A Agostinho
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. The IAs apparently have shown a normal phenotype. However, there are some reported associations between individuals that bear an IA and clinical HD signs, such as behavioral disturbs...
April 5, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28387021/diagnosing-clear-cell-neuroendocrine-tumors-on-cytological-specimens-report-of-two-cases-and-brief-literature-review
#13
Kaila Buckley, Zaibo Li
Although many of the common manifestations of Von Hippel-Lindau (VHL) disease are relatively well known, there is one particular entity which is quite rare, but which appears to show a specific predilection for VHL patients. This entity is clear cell neuroendocrine tumor (NET). It is a difficult diagnosis to make due to its cytomorphologic similarities to other entities, such as metastatic clear cell renal cell carcinoma and paraganglioma, amongst others. These tumors, however, are characteristically positive for neuroendocrine markers such as synaptophysin and chromogranin, as well as cytokeratins...
April 6, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28386333/microrna-150-regulates-glycolysis-by-targeting-von-hippel-lindau-in-glioma-cells
#14
Shi-Jie Li, Hong-Lin Liu, Shi-Lei Tang, Xiao-Juan Li, Xiao-Yin Wang
Warburg effect, characterized by enhanced glycolysis and lactate production, even under aerobic conditions, is one of the hallmarks of cancer cells. However, the mechanism underlying this phenomenon remains poorly understood. Previous studies have shown that microRNA-150 (miR-150) is significantly up-regulated in various malignancies and represents a putative onco-miRNA in human cancers. In the present study, we aim to investigate the functional significance and molecular target of miR-150 in glioma. As a result, von Hippel-Lindau (VHL), which is a specific E3 ligase for hypoxia inducible factor 1 (HIF1α), was identified as a novel target of miR-150...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28379443/differences-in-genetic-and-epigenetic-alterations-between-von-hippel-lindau-disease-related-and-sporadic-hemangioblastomas-of-the-central-nervous-system
#15
Shunsaku Takayanagi, Akitake Mukasa, Shota Tanaka, Masashi Nomura, Mayu Omata, Shunsuke Yanagisawa, Shogo Yamamoto, Koichi Ichimura, Hirofumi Nakatomi, Keisuke Ueki, Hiroyuki Aburatani, Nobuhito Saito
Background.: Although inactivation of the von Hippel-Lindau gene (VHL), located on chromosome 3p25, is considered to be a major cause of hemangioblastomas (HBs), the incidence of biallelic inactivation of VHL is reportedly low. The aim of this study was to determine the prevalence of VHL alterations in HBs, as well as to identify additional molecular aberrations. Methods.: Genetic and epigenetic alterations were comprehensively and comparatively analyzed in 11 VHL-related and 21 sporadic HBs...
March 30, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28378579/a-click-chemistry-platform-for-the-rapid-synthesis-of-bispecific-molecules-for-inducing-protein-degradation
#16
Ryan P Wurz, Ken Dellamaggiore, Hannah Dou, Noelle Javier, Mei-Chu Lo, John D McCarter, Dane Mohl, Christine Sastri, J Russell Lipford, Victor J Cee
Proteolysis targeting chimeras (PROTACs) are bispecific molecules containing a target protein binder and an ubiquitin ligase binder connected by a linker. By recruiting an ubiquitin ligase to a target protein, PROTACs promote ubiquitination and proteasomal degradation of the target protein. The generation of effective PROTACs depends on the nature of the protein/ligase ligand pair, linkage site, linker length, and linker composition, all of which have been difficult to address in a systematic way. Herein, we describe a "click chemistry" approach for the synthesis of PROTACs...
April 5, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28368407/differential-regulation-of-lncrna-sarcc-suppresses-vhl-mutant-rcc-cell-proliferation-yet-promotes-vhl-normal-rcc-cell-proliferation-via-modulating-androgen-receptor-hif-2%C3%AE-c-myc-axis-under-hypoxia
#17
W Zhai, Y Sun, M Jiang, M Wang, T A Gasiewicz, J Zheng, C Chang
No abstract text is available yet for this article.
April 3, 2017: Oncogene
https://www.readbyqxmd.com/read/28363475/clin-cancer-res-2004-sep-15-10-18-pt-2-6371s-6376s
#18
Max Meng
Current standard treatments for patients with metastatic (stage IV) renal cell carcinoma involve both surgical removal of tumors and treatment with biological agents such as interleukin 2 or IFN-α. Unfortunately, such approaches are inadequate for most patients with stage IV disease; the result is a median time to progression of 2 to 4 months and an overall survival of 6 to 17 months. Standard chemotherapy has been uniformly disappointing in this disorder. It is clear that new therapies are needed to approach these patients...
March 28, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28362170/accuracy-and-reproducibility-of-dental-measurements-on-tomographic-digital-models-a-systematic-review-and-meta-analysis
#19
Jamille B Ferreira, Ilana O Christovam, David S Alencar, Andréa F J da Motta, Claudia T Mattos, Adriana Cury-Saramago
OBJECTIVES: The aim of this systematic review with meta-analysis was to assess the accuracy and reproducibility of dental measurements obtained from digital study models generated from CBCT compared with those acquired from plaster models. METHODS: The electronic databases Cochrane Library, Medline (via PubMed), Scopus, VHL, Web of Science, and System for Information on Grey Literature in Europe were screened to identify articles from 1998 until February 2016. The inclusion criteria were: prospective and retrospective clinical trials in humans; validation and/or comparison articles of dental study models obtained from CBCT and plaster models; and articles that used dental linear measurements as an assessment tool...
April 26, 2017: Dento Maxillo Facial Radiology
https://www.readbyqxmd.com/read/28357490/annexin-a10-optimally-differentiates-between-intrahepatic-cholangiocarcinoma-and-hepatic-metastases-of-pancreatic-ductal-adenocarcinoma-a-comparative-study-of-immunohistochemical-markers-and-panels
#20
Julia Kälsch, Juliet Padden, Stefanie Bertram, Leona L Pott, Henning Reis, Daniela Westerwick, Christoph M Schaefer, Jan-P Sowa, Dorothe Möllmann, Christian Fingas, Alexander Dechȇne, Barbara Sitek, Martin Eisenacher, Ali Canbay, Maike Ahrens, Hideo A Baba
Discriminating intrahepatic cholangiocarcinoma (ICC) from hepatic metastases of pancreatic ductal adenocarcinoma (mPDAC) can be challenging. While pathologists might depend on clinical information regarding a primary tumor, their diagnosis will lead the patient either to potentially curative surgery (for ICC) or to palliation (for mPDAC). Beyond the validation of recently published potential biomarkers for PDAC (primary or metastatic) in a large cohort, we assessed diagnostic performance of the most promising candidates in the challenging task of discriminating metastatic PDAC (mPDAC) from ICC...
March 29, 2017: Virchows Archiv: An International Journal of Pathology
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